Article
Lynch syndrome and Muir-Torre phenotype associated with a recurrent variant in the 3'UTR of the MSH6 gene.
Cancer genetics - 1 Jun 2021
Cini Giulia, Carnevali Ileana, Sahnane Nora, Chiaravalli Anna Maria, Dell'Elice Anastasia, Maestro Roberta, Pin Elisa, Bestetti Ilaria, Radovic Slobodanka, Armelao Franco, Viel Alessandra, Tibiletti Maria Grazia
Abstract excerpt
A MSH6 3'UTR variant (c.*23_26dup) was found in 13 unrelated families consulted for Lynch/Muir-Torre Syndrome. This variant, which is very rare in the genomic databases, was absent in healthy controls and strongly segregated with the disease in the studied pedigrees. All tumors were defective for MSH2/MSH6/MSH3 proteins expression, but only MSH2 somatic pathogenic mutations were found in 5 of the 12 sequenced...
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